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At least 181 records · Page 10Linked to original sources
PubMed2006

Arrhythmogenic right ventricular cardiomyopathy caused by deletions in plakophilin-2 and plakoglobin (Naxos disease) in families from Greece and Cyprus: genotype-phenotype relations, diagnostic features and prognosis.

AIMS: To evaluate clinical disease expression, non-invasive diagnosis, and prognosis in families with dominant vs. recessive arrhythmogenic right ventricular cardiomyopathy (ARVC) due to mutations in related desmosomal proteins plakophilin-2 (PKP2) and plakoglobin (JUP), respectively. METHODS AND RESULTS: One hundred and eighty-seven individuals belonging to ARVC families, four with dominant PKP2 mutations and 12 with recessive JUP mutation underwent serial non-invasive cardiac assessment. Survival and arrhythmic events were evaluated prospectively up to 21 years (median 8.5 years). Sixteen of 22 PKP2 carriers and all 26 homozygous JUP carriers fulfilled the diagnostic criteria for ARVC, the youngest by the age of 13 years. Clinical disease expression did not differ significantly between PKP2 and JUP carriers. T-wave inversion in leads V1-V3, right ventricular wall motion abnormalities, and frequent ventricular extrasystoles were the most sensitive/specific markers for identification of mutation carriers. QRS dispersion > or =40 ms was an independent predictor of syncope but not of sudden death. CONCLUSION: Mutations in PKP2 and JUP express similar cardiac phenotype. Non-invasive family screening may largely be based on T-wave inversion, right ventricular wall motion abnormalities, and frequent ventricular extrasystoles to identify mutation carriers.

Adolescent↗
PubMed2004

Differences in physical activity levels between urban and rural school children in Cyprus.

This study attempted to examine differences in physical activity levels between urban and rural primary school children. The sample consisted of 256 Greek-Cypriot children and their parents from two schools representing urban areas and three schools representing rural areas. Children's activity levels were assessed for 4 weekdays in the winter and for 4 weekdays in the summer using a pedometer (DW-200; Yamax, Tokyo, Japan). Daily step counts were used to describe children's activity levels. Parents completed a questionnaire assessing environmental variables in both seasons. Two-way ANOVAs indicated that urban school children were significantly more active in winter than rural school children (means = 13,583 +/- 4,313 versus 12 436 +/- 3610, P < 0.001) and that rural school children were significantly more active in the summer (means = 16,450 +/- 5134 versus 14,531 +/- 4,901, P < 0.001). Parents of children in rural schools reported more space available in the garden and in the neighbourhoods, and safer neighbourhoods than parents of children in urban schools, whereas children in urban schools had more exercise equipment available at home and were transported more frequently to places where they could be physically active. Results of this study suggest that intervention programmes to promote physical activity need to consider seasonal and geographical location differences in physical activity levels.

Child↗
PubMed1983

Thalassaemia intermedia in Cyprus: the interaction of alpha and beta thalassaemia.

Restriction endonuclease analysis has been performed on the alpha and beta globin gene clusters of 57 Cypriots homozygous for beta thalassaemia, 30 with the transfusion dependent form of the condition (thalassaemia major) and 27 who are less severely affected (thalassaemia intermedia). There was a significant difference in the incidence of alpha thalassaemia between the two groups: 14/27 of the patients with thalassaemia intermedia also had deletion forms of alpha thalassaemia, while only 4/30 of the patients with thalassaemia major were similarly affected. Thus in Cypriot patients who are homozygous for beta thalassaemia the co-inheritance of alpha thalassaemia is an important factor in determining the clinical course.

Adolescent↗
PubMed1995

Family dynamics and school achievement in Cyprus.

The purpose of this study was to examine the extent to which family cohesion, a functional characteristic of family life, is related to school achievement. It is already established in the international literature that such a relationship does exist between school achievement and a number of structural characteristics of the family, particularly socioeconomic status (SES). Demographic data were collected from all the ninth grade students of two Greek Cypriot high schools, one serving a suburban and the other serving a rural population. The students (N = 391) completed a self report questionnaire that was designed to measure the degree of their family cohesion or the emotional togetherness that they felt existing among the members of their family. It was found that the degree of family cohesion was as able to discriminate them in terms of school achievement as their family's SES. Both variables produced statistically significant differences, in contrast to gender and place of residence (urban vs rural). The results are discussed in relation to the Greek Cypriot family context.

Adolescent↗
PubMed1975

Haemoglobin Lepore in Cyprus.

Structural analysis documented the presence of haemoglobin LeporeWashington (=LeporeBoston) in a Greek Cypriot family and provided further evidence that, of the various types of Lepore mutants, only one is common in the Mediterranean area. Two individuals in this family were heterozygous for both Hb Lepore and beta thalassaemia, but they exhibited striking differences in the clinical severity and course of the disease. The data illustrate that additional environmental or genetic factors play roles in determining or modifying the pathophysiological consequences of highly specific molecular defects and, thus, their ultimate clinical phenotypes.

Amino Acids↗